Revel Score:
ENST00000546500
0.532
ENST00000547708
0.532
ENST00000547617
0.532
ENST00000552494
0.532
ENST00000340913 (MANE Select)
0.532
ENST00000330752
0.532
ENST00000552591
0.532
ENST00000551133
0.532
ENST00000547276
0.532
ENST00000550482
0.532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54283845A>G , CM000674.2:g.54283845A>G | GRCh38 |
| NC_000012.11:g.54677629A>G , CM000674.1:g.54677629A>G | GRCh37 |
| NC_000012.10:g.52963896A>G | NCBI36 |
| NG_033830.1:g.8142A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340913.11:c.941A>G MANE Select | ENSP00000341826.7:p.Asp314Gly | |
| ENST00000550482.2:c.785A>G | ENSP00000446486.2:p.Asp262Gly | |
| ENST00000676472.1:c.73A>G | ||
| ENST00000676572.1:c.167A>G | ||
| ENST00000676707.1:c.88A>G | ||
| ENST00000676725.1:n.1115A>G | ||
| ENST00000676794.1:c.-41A>G | ENSP00000504819.1:n.-41A>G | |
| ENST00000676853.1:c.169A>G | ||
| ENST00000676886.1:c.85-413A>G | ||
| ENST00000676951.1:c.190A>G | ||
| ENST00000677191.1:c.281A>G | ||
| ENST00000677210.1:c.941A>G | ENSP00000503610.1:p.Asp314Gly | |
| ENST00000677220.1:c.132+2343A>G | ENSP00000502987.1:n.132+2343A>G | |
| ENST00000677224.1:c.43A>G | ||
| ENST00000677249.1:c.782A>G | ENSP00000503649.1:p.Asp261Gly | |
| ENST00000677279.1:c.40A>G | ||
| ENST00000677375.1:c.785A>G | ENSP00000503651.1:p.Asp262Gly | |
| ENST00000677385.1:c.*1127A>G | ENSP00000502985.1:n.*1127A>G | |
| ENST00000677518.1:c.34A>G | ||
| ENST00000677539.1:c.323A>G | ||
| ENST00000677636.1:c.127A>G | ||
| ENST00000677778.1:c.75+971A>G | ||
| ENST00000677840.1:c.34A>G | ||
| ENST00000677847.1:c.24+10A>G | ||
| ENST00000677945.1:c.112A>G | ||
| ENST00000678077.1:c.650A>G | ENSP00000504814.1:p.Asp217Gly | |
| ENST00000678212.1:c.129A>G | ||
| ENST00000678279.1:n.67-47A>G | ||
| ENST00000678365.1:n.49-2817A>G | ||
| ENST00000678412.1:c.157-413A>G | ||
| ENST00000678418.1:n.1137A>G | ||
| ENST00000678424.1:c.166A>G | ||
| ENST00000678448.1:c.133A>G | ENSP00000503619.1:p.Ile45Val | |
| ENST00000678456.1:c.76-413A>G | ||
| ENST00000678513.1:c.61A>G | ||
| ENST00000678581.1:c.169A>G | ||
| ENST00000678597.1:c.58A>G | ||
| ENST00000678611.1:c.175A>G | ||
| ENST00000678873.1:c.109A>G | ||
| ENST00000678876.1:c.127A>G | ||
| ENST00000678934.1:c.88A>G | ||
| ENST00000678970.1:c.157-47A>G | ||
| ENST00000679026.1:c.34A>G | ||
| ENST00000679063.1:c.109A>G | ||
| ENST00000679079.1:c.156+611A>G | ||
| ENST00000679228.1:n.1136A>G | ||
| ENST00000679273.1:c.121A>G | ENSP00000504626.1:p.Ile41Val | |
| ENST00000679344.1:c.142A>G | ||
| ENST00000330752.12:c.746A>G | ENSP00000333504.8:p.Asp249Gly | |
| ENST00000340913.10:c.941A>G | ENSP00000341826.6:p.Asp314Gly | |
| ENST00000546500.5:c.785A>G | ENSP00000448617.1:p.Asp262Gly | |
| ENST00000547276.5:c.626A>G | ENSP00000447260.1:p.Asp209Gly | |
| ENST00000547566.5:c.785A>G | ENSP00000449913.1:p.Asp262Gly | |
| ENST00000547708.5:c.437A>G | ENSP00000448229.1:p.Asp146Gly | |
| ENST00000550482.1:c.398A>G | ENSP00000446486.1:p.Asp133Gly | |
| ENST00000551679.1:n.123A>G | ||
| NM_002136.2:c.785A>G | NP_002127.1:p.Asp262Gly | |
| NM_031157.2:c.941A>G | NP_112420.1:p.Asp314Gly | |
| XM_005268826.1:c.941A>G | XP_005268883.1:p.Asp314Gly | |
| XR_245923.1:n.1053A>G | ||
| XR_245924.1:n.897A>G | ||
| NM_002136.3:c.785A>G | NP_002127.1:p.Asp262Gly | |
| NM_031157.3:c.941A>G | NP_112420.1:p.Asp314Gly | |
| NR_135167.1:n.903A>G | ||
| XM_005268826.2:c.941A>G | XP_005268883.1:p.Asp314Gly | |
| XR_245923.2:n.1013A>G | ||
| NM_002136.4:c.785A>G | NP_002127.1:p.Asp262Gly | |
| NM_031157.4:c.941A>G MANE Select | NP_112420.1:p.Asp314Gly | |
| NR_135167.2:n.867A>G |